Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750934_27750935insGCCT , CM000684.2:g.27750934_27750935insGCCT | GRCh38 |
| NC_000022.10:g.28146922_28146923insGCCT , CM000684.1:g.28146922_28146923insGCCT | GRCh37 |
| NC_000022.9:g.26476922_26476923insGCCT | NCBI36 |
| NG_023258.1:g.55564_55565insAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.468_469insAGGC | ||
| ENST00000302326.5:c.3943_3944insAGGC MANE Select | ENSP00000304956.4:p.Phe1315Ter | |
| ENST00000302326.4:c.3943_3944insAGGC | ENSP00000304956.4:p.Phe1315Ter | |
| ENST00000424656.1:c.296_297insAGGC | ||
| ENST00000497225.1:n.299_300insAGGC | ||
| NM_002430.2:c.3943_3944insAGGC | NP_002421.3:p.Phe1315Ter | |
| NM_002430.3:c.3943_3944insAGGC MANE Select | NP_002421.3:p.Phe1315Ter |